Recombinant Chromosome 4 from a Familial Pericentric Inversion : Prenatal and Adulthood Wolf-Hirschhorn Phenotypes
Joint Authors
Grimi, Beatrice
Simoni, Giuseppe
Malvestiti, Francesca
Benedicenti, Francesco
Maggi, Federico
Fichtel, Gertrud
Agrati, Cristina
Chinetti, Sara
De Toffol, Simona
Braghetto, Monica
Höller, Adelheid
Bonaparte, Eleonora
Grati, Francesca Romana
Source
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-05-16
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
Pericentric inversion of chromosome 4 can give rise to recombinant chromosomes by duplication or deletion of 4p.
We report on a familial case of Wolf-Hirschhorn Syndrome characterized by GTG-banding karyotypes, FISH, and array CGH analysis, caused by a recombinant chromosome 4 with terminal 4p16.3 deletion and terminal 4q35.2 duplication.
This is an aneusomy due to a recombination which occurred during the meiosis of heterozygote carrier of cryptic pericentric inversion.
We also describe the adulthood and prenatal phenotypes associated with the recombinant chromosome 4.
American Psychological Association (APA)
Malvestiti, Francesca& Benedicenti, Francesco& De Toffol, Simona& Chinetti, Sara& Höller, Adelheid& Grimi, Beatrice…[et al.]. 2013. Recombinant Chromosome 4 from a Familial Pericentric Inversion : Prenatal and Adulthood Wolf-Hirschhorn Phenotypes. Case Reports in Genetics،Vol. 2013, no. 2013, pp.1-4.
https://search.emarefa.net/detail/BIM-462021
Modern Language Association (MLA)
Malvestiti, Francesca…[et al.]. Recombinant Chromosome 4 from a Familial Pericentric Inversion : Prenatal and Adulthood Wolf-Hirschhorn Phenotypes. Case Reports in Genetics No. 2013 (2013), pp.1-4.
https://search.emarefa.net/detail/BIM-462021
American Medical Association (AMA)
Malvestiti, Francesca& Benedicenti, Francesco& De Toffol, Simona& Chinetti, Sara& Höller, Adelheid& Grimi, Beatrice…[et al.]. Recombinant Chromosome 4 from a Familial Pericentric Inversion : Prenatal and Adulthood Wolf-Hirschhorn Phenotypes. Case Reports in Genetics. 2013. Vol. 2013, no. 2013, pp.1-4.
https://search.emarefa.net/detail/BIM-462021
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-462021
